(Q48824607)

15 February 2018

title

Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy. (English)

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15 February 2018

author

Valeria Tiranti

8

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15 February 2018

Vincenzo Leuzzi

9

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15 February 2018

Ivano Di Meo

Ivano Di Meo

7

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Carla Giordano

Carla Giordano

1

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Massimo Zeviani

11

Massimo Zeviani

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15 February 2018

Carlo Viscomi

2

Carlo Viscomi

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15 February 2018

author name string

Maurizia Orlandi

3

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15 February 2018

Paola Papoff

4

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15 February 2018

Alberto Spalice

5

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15 February 2018

Alberto Burlina

6

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15 February 2018

Giulia d'Amati

10

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15 February 2018

publication date

22 October 2011

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15 February 2018

Journal of Inherited Metabolic Disease

published in

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15 February 2018

volume

35

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issue

3

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15 February 2018

page(s)

451-458

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15 February 2018

https://scigraph.springernature.com/pub.10.1007/s10545-011-9408-3

exact match

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cites work

Pathogenic factors underlying the lesions in Leigh's disease. Tissue responses to cellular energy deprivation and their clinico-pathological consequences

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9408-3

Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9408-3

Cytochrome oxidase inhibition induced by acute hydrogen sulfide inhalation: correlation with tissue sulfide concentrations in the rat brain, liver, lung, and nasal epithelium.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9408-3

Ethylmalonic encephalopathy: further clinical and neuroradiological characterization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9408-3

Hydrogen sulphide and its therapeutic potential

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9408-3

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9408-3

ETHE1 mutations are specific to ethylmalonic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9408-3

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9408-3

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9408-3

Signaling pathways for the vascular effects of hydrogen sulfide

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9408-3

Cystathionine gamma-lyase overexpression inhibits cell proliferation via a H2S-dependent modulation of ERK1/2 phosphorylation and p21Cip/WAK-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9408-3

New clinical phenotype of branched-chain acyl-CoA oxidation defect

21 January 2018

2 references

https://api.crossref.org/works/10.1007%2FS10545-011-9408-3

21 January 2018

12 December 2020

Muscle cytochromec oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype

1 reference

12 December 2020

Pro-apoptotic effect of endogenous H2S on human aorta smooth muscle cells

1 reference

12 December 2020

Clinical and neuropathological picture of ethylmalonic aciduria - diagnostic dilemma.

1 reference

12 December 2020

Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency

1 reference

12 December 2020

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy

1 reference

12 December 2020

10.1007/S10545-011-9408-3

Identifiers

DOI

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15 February 2018

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15 February 2018